Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a BRCA1/2 Mutation or Partners of Male Mutation Carriers

Efrat Dagan, Daphna Birenbaum-Carmeli, Eitan Friedman, Baruch Feldman

Research output: Contribution to journalArticlepeer-review


To describe factors associated with preimplantation genetic diagnosis (PGD) decisions among Jewish Israeli BRCA1/2 carriers or spouses of a male carrier, we contacted all women who initiated PGD consultation for embryonic BRCA1/2 mutation detection at Sheba Medical Center, prior to March 2014. Applying a qualitative approach, we asked women to elaborate on the factors they considered in either opting for PGD or discontinuing the screening procedure. Participants were 18 Jewish Israeli women; 14 were carriers of one of the Ashkenazi founder mutations in BRCA1/2, and four were spouses of male mutation carriers, who underwent at least one cycle of PGD. Prior to seeking PGD, ten of the women had no children. At the time of the interview, all but three had at least one child. Three factors emerged as key motivators for PGD: having witnessed the disease in a close relative (n = 12); prior IVF treatment for infertility (n = 12); and having pre-existing frozen embryos (n = 6). Ten women withdrew from the PGD process due to clinical, logistical, and financial reasons. In conclusion, most women decided to withdraw from PGD instead of continuing until a successful conception was achieved. Those who opted for PGD attributed their discontinuation of further screening to the emotional burden that is greatly intensified by practical difficulties.

Original languageEnglish
Pages (from-to)1070-1079
Number of pages10
JournalJournal of Genetic Counseling
Issue number5
StatePublished - 1 Oct 2017

Bibliographical note

Funding Information:
We are grateful to the women who participated in the interviews, for their efforts, for devoting their time, and for their willingness to share their experiences. Efrat Dagan, Daphna Birenbaum-Carmeli.This study was funded by the Israel Cancer Association through a grant to Efrat Dagan.

Publisher Copyright:
© 2017, National Society of Genetic Counselors, Inc.


  • BRCA1/2
  • Decision making process
  • Hereditary breast and/or ovarian cancer syndrome
  • Preimplantation genetic diagnosis
  • Prenatal genetic diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)


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